广西人群TLR4基因内含子区基因多态性的研究

目的探讨人类Toll样受体4（TLR4）基因内含子区单核苷酸多态性在广西人群中分布情况及其与不同人群的差异。方法采用单碱基延伸PCR技术和DNA测序方法检测196例健康广西人群（男115例,女81例）TLR4基因内含子区rs11536879A/G位点多态性,并与人类基因组计划研究的4个人群（欧洲、北京、日本、非洲）单核苷酸多态性分型数据进行对比。结果广西人群TLR4基因内含子区rs11536879A/G位点存在AA、GA、GG 3种基因型,其基因型及等位基因频率在男性、女性组间分布差异无统计学意义（P〉0.05）;广西人群TLR4基因内含子区rs11536879A/G位点基因型及等位基因频率与欧洲、非洲、日本人群比较,差异有统计学意义（P〈0.05）,而与北京人群比较,差异无统计学意义（P〉0.05）。结论广西人群TLR4基因内含子区基因多态性的基因型及等位基因频率分布在男女性之间无明显差异,在不同地区人群之间存在明显差异。

Genetic Polymorphism of TLR4 at Intronic Region in Guangxi Population

Objective To investigate the distribution of single nucleotide polymorphism（ SNP） of Toll-like receptor4（ TLR4） gene in Guangxi population,and to discuss the difference among various groups. Methods Polymerase chain reaction-single base extension（ PCR-SBE） and DNA sequencing method were used to analyze the rs11536879A / G polymorphism of TLR4 gene at the intronic region among 196 healthy cases in Guangxi（ 115 male cases,81 female cases）which was compared with the data of other 4 populations（ Hapmap-CEU,Hapmap-HCB,Hapmap-JPT,Hapmap-YRI）from the Human Genome Project group（ Hapmap）. Results There were genotypes of AA,GA,GG in rs11536879A / G of TLR4 gene at the intronic region in Guangxi population,the frequencies of genotype and allele distribution of rs11536879A / G polymorphisms showed no significant difference between female and male groups（ P〉0. 05）. Guangxi population showed a significant difference in the frequencies of genotype and allele distribution of rs11536879A / G polymorphism in contrast with Hapmap-CEU,Hapmap-JPT and Hapmap-YRI（ P〈0. 05）,but showed no significant difference in contast with Hapmap-HCB（ P〉0. 05）. Conclusion The frequencies of genotype and allele distribution of genetic polymorphisms at the TLR4 intronic region in Guangxi population show no significant difference between the male and the female,but show a significant difference among different regions and races.